-
1
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive NaCl cotransporter
-
Simon DB, Nelson-Williams C, Bia MJ, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive NaCl cotransporter. Nat Genet 1996; 12: 24-30.
-
(1996)
Nat. Genet.
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
-
2
-
-
0013976561
-
A new familial disorder characterized by hypokalemia and hypomagnesemia
-
Gitelman HJ, Graham JB, Welt LG: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 1966; 79: 221-235.
-
(1966)
Trans. Assoc. Am. Phys.
, vol.79
, pp. 221-235
-
-
Gitelman, H.J.1
Graham, J.B.2
Welt, L.G.3
-
3
-
-
0026512508
-
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes
-
Bettinelli A, Bianchetti MG, Girardin E, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 1992; 120: 38-43.
-
(1992)
J. Pediatr.
, vol.120
, pp. 38-43
-
-
Bettinelli, A.1
Bianchetti, M.G.2
Girardin, E.3
-
4
-
-
42549151627
-
Novel SLC12A3 mutations in chinese patients with gitelman's syndrome
-
Shao L, Ren H, Wang W, et al: Novel SLC12A3 mutations in Chinese patients with Gitelman's syndrome. Nephron Physiol 2008; 108: 29-36.
-
(2008)
Nephron. Physiol.
, vol.108
, pp. 29-36
-
-
Shao, L.1
Ren, H.2
Wang, W.3
-
5
-
-
53549133936
-
A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney
-
Shao L, Liu L, Miao Z, et al: A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Am J Nephrol 2008; 28: 900-907.
-
(2008)
Am. J. Nephrol.
, vol.28
, pp. 900-907
-
-
Shao, L.1
Liu, L.2
Miao, Z.3
-
6
-
-
63149180423
-
Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome
-
Qin L, Shao L, Ren H, et al: Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome. Nephrology (Carlton) 2009; 14: 52-58.
-
(2009)
Nephrology (Carlton)
, vol.14
, pp. 52-58
-
-
Qin, L.1
Shao, L.2
Ren, H.3
-
7
-
-
68349146821
-
Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive NaCl cotransporter mutations
-
Miao Z, Gao Y, Bindels RJ, et al: Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive NaCl cotransporter mutations. Eur J Endocrinol 2009; 161: 275-283.
-
(2009)
Eur. J. Endocrinol.
, vol.161
, pp. 275-283
-
-
Miao, Z.1
Gao, Y.2
Bindels, R.J.3
-
8
-
-
84863327161
-
Coexistence of Gitelman's syndrome and thyroid disease: SLCl2A3 gene analysis in two patients
-
Dong H, Lang Y, Shao Z, et al: Coexistence of Gitelman's syndrome and thyroid disease: SLCl2A3 gene analysis in two patients. Chin J Endocrinol Metab 2010; 25: 395-398.
-
(2010)
Chin. J. Endocrinol. Metab.
, vol.25
, pp. 395-398
-
-
Dong, H.1
Lang, Y.2
Shao, Z.3
-
9
-
-
33746644724
-
WNK1 and OSR1 regulate the Na + ,K + ,2Cl- cotransporter in HeLa cells
-
Anselmo AN, Earnest S, Chen W, et al: WNK1 and OSR1 regulate the Na + ,K + ,2Cl- cotransporter in HeLa cells. Proc Natl Acad Sci USA 2006; 103: 10883-10888.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 10883-10888
-
-
Anselmo, A.N.1
Earnest, S.2
Chen, W.3
-
10
-
-
30044442784
-
WNK1 regulates phosphorylation of cation- Chloride-Coupled cotransporters via the STE20-related kinases, SPAK and OSR1
-
Moriguchi T, Urushiyama S, Hisamoto N, et al: WNK1 regulates phosphorylation of cation- chloride-coupled cotransporters via the STE20-related kinases, SPAK and OSR1. J Biol Chem 2005; 280: 42685-42693.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 42685-42693
-
-
Moriguchi, T.1
Urushiyama, S.2
Hisamoto, N.3
-
11
-
-
77953459148
-
Role of the WNK-activated SPAK kinase in regulating blood pressure
-
Rafiqi FH, Zuber AM, Glover M, et al: Role of the WNK-activated SPAK kinase in regulating blood pressure. EMBO Mol Med 2010; 2: 63-75.
-
(2010)
EMBO Mol. Med.
, vol.2
, pp. 63-75
-
-
Rafiqi, F.H.1
Zuber, A.M.2
Glover, M.3
-
12
-
-
79952798017
-
Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-Dependent and -Independent pathways
-
Richardson C, Sakamoto K, de los Heros P, et al: Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-dependent and -independent pathways. J Cell Sci 2011; 124: 789-800.
-
(2011)
J. Cell Sci.
, vol.124
, pp. 789-800
-
-
Richardson, C.1
Sakamoto, K.2
De Los Heros, P.3
-
13
-
-
56349151939
-
The regulation of salt transport and blood pressure by the WNK-SPAK/OSR1 signalling pathway
-
Richardson C, Alessi DR: The regulation of salt transport and blood pressure by the WNK-SPAK/OSR1 signalling pathway. J Cell Sci 2008; 121: 3293-3304.
-
(2008)
J. Cell Sci.
, vol.121
, pp. 3293-3304
-
-
Richardson, C.1
Alessi, D.R.2
-
14
-
-
0347423198
-
Seventh report of the joint national committee on prevention, detection, evaluation, and treatment of high blood pressure
-
Chobanian AV, Bakris GL, Black HR, et al: Seventh report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure. Hypertension 2003; 42: 1206-1252.
-
(2003)
Hypertension
, vol.42
, pp. 1206-1252
-
-
Chobanian, A.V.1
Bakris, G.L.2
Black, H.R.3
-
15
-
-
0242300698
-
The expert committee on the diagnosis and classification of diabetes mellitus: Followup report on the diagnosis of diabetes mellitus
-
Genuth S, Alberti KG, Bennett P, et al: The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: followup report on the diagnosis of diabetes mellitus. Diabetes Care 2003; 26: 3160-3167.
-
(2003)
Diabetes Care
, vol.26
, pp. 3160-3167
-
-
Genuth, S.1
Alberti, K.G.2
Bennett, P.3
-
16
-
-
0035936780
-
Molecular mechanisms of human hypertension
-
Lifton RP, Gharavi AG, Geller DS: Molecular mechanisms of human hypertension. Cell 2001; 104: 545-556.
-
(2001)
Cell
, vol.104
, pp. 545-556
-
-
Lifton, R.P.1
Gharavi, A.G.2
Geller, D.S.3
-
17
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W, Foo JN, O'Roak BJ, et al: Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40: 592-599.
-
(2008)
Nat. Genet.
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
-
18
-
-
38349124458
-
Subjects heterozygous for genetic loss of function of the thiazide-Sensitive cotransporter have reduced blood pressure
-
Fava C, Montagnana M, Rosberg L, et al: Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. Hum Mol Genet 2008; 17: 413-418.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 413-418
-
-
Fava, C.1
Montagnana, M.2
Rosberg, L.3
-
19
-
-
65349094814
-
Heterozygous mutations of the sodium chloride cotransporter in chinese children: Prevalence and association with blood pressure
-
Hsu YJ, Yang SS, Chu NF, et al: Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrol Dial Transplant 2009; 24: 1170-1175.
-
(2009)
Nephrol. Dial Transplant
, vol.24
, pp. 1170-1175
-
-
Hsu, Y.J.1
Yang, S.S.2
Chu, N.F.3
-
20
-
-
43449122493
-
Case-Control study of the role of the Gitelman's syndrome gene in essential hypertension
-
Aoi N, Nakayama T, Sato N, et al: Case-control study of the role of the Gitelman's syndrome gene in essential hypertension. Endocr J 2008; 55: 305-310.
-
(2008)
Endocr. J.
, vol.55
, pp. 305-310
-
-
Aoi, N.1
Nakayama, T.2
Sato, N.3
-
21
-
-
0033609526
-
Is pulse pressure useful in predicting risk for coronary heart disease the framingham heart study
-
Franklin SS, Khan SA, Wong ND, et al: Is pulse pressure useful in predicting risk for coronary heart disease? The Framingham Heart Study. Circulation 1999; 100: 354-360.
-
(1999)
Circulation
, vol.100
, pp. 354-360
-
-
Franklin, S.S.1
Khan, S.A.2
Wong, N.D.3
-
22
-
-
79955101586
-
Increased arterial stiffness in healthy subjects with high-normal glucose levels and in subjects with prediabetes
-
Shin JY, Lee HR, Lee DC: Increased arterial stiffness in healthy subjects with high-normal glucose levels and in subjects with prediabetes. Cardiovasc Diabetol 2011; 10: 30.
-
(2011)
Cardiovasc. Diabetol.
, vol.10
, pp. 30
-
-
Shin, J.Y.1
Lee, H.R.2
Lee, D.C.3
-
23
-
-
17944373014
-
Human hypertension caused by mutations in WNK kinases
-
Wilson FH, Disse-Nicodeme S, Choate KA, et al: Human hypertension caused by mutations in WNK kinases. Science 2001; 293: 1107-1112.
-
(2001)
Science
, vol.293
, pp. 1107-1112
-
-
Wilson, F.H.1
Disse-Nicodeme, S.2
Choate, K.A.3
-
24
-
-
0037457965
-
Molecular pathogenesis of inherited hypertension with hyperkalemia: The NaCl cotransporter is inhibited by wild-type but not mutant WNK4
-
Wilson FH, Kahle KT, Sabath E, et al: Molecular pathogenesis of inherited hypertension with hyperkalemia: the NaCl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci USA 2003; 100: 680-684.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 680-684
-
-
Wilson, F.H.1
Kahle, K.T.2
Sabath, E.3
-
25
-
-
0742270766
-
Intrafamilial phenotype variability in patients with gitelman syndrome having the same mutations in their thiazide-Sensitive sodium/ chloride cotransporter
-
Lin SH, Cheng NL, Hsu YJ, et al: Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/ chloride cotransporter. Am J Kidney Dis 2004; 43: 304-312.
-
(2004)
Am. J. Kidney Dis.
, vol.43
, pp. 304-312
-
-
Lin, S.H.1
Cheng, N.L.2
Hsu, Y.J.3
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